ERBB4 (erb-b2 receptor tyrosine kinase 4)

Gene

• Entrez ID: 2066
• Gene name: Erb-b2 receptor tyrosine kinase 4
• Gene symbol: ERBB4
• Synonyms (NCBI Gene): ALS19, HER4, p180erbB4
• Chromosome: 2
• Chromosome location: 2q34
• Summary: This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotid

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55671017	G>A,T	Likely-pathogenic, benign	Coding sequence variant, missense variant, synonymous variant
rs202247795	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs267599192	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs267599193	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397514262	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514263	G>A	Pathogenic	Coding sequence variant, missense variant
rs535202189	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs776347334	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553563398	AG>-	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1574867228	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1575051224	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003534	hsa-miR-302d-3p	Luciferase reporter assay, Microarray	19885849
MIRT003533	hsa-miR-19a-3p	Luciferase reporter assay, Microarray	19885849
MIRT003533	hsa-miR-19a-3p	Luciferase reporter assay, Microarray	19885849
MIRT003532	hsa-miR-372-3p	Luciferase reporter assay, Microarray	19885849
MIRT005806	hsa-miR-146a-5p	Luciferase reporter assay, Microarray, Western blot	20864407
MIRT053661	hsa-miR-145-5p	Microarray	22942087
MIRT053704	hsa-miR-221-3p	Microarray	22942087
MIRT054800	hsa-miR-302b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24438167
MIRT005806	hsa-miR-146a-5p	Luciferase reporter assay, Northern blot	23619365
MIRT734720	hsa-miR-323a-3p	Luciferase reporter assay, qRT-PCR	33219358
MIRT755371	hsa-miR-23a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	37290686
MIRT968025	hsa-miR-1193	CLIP-seq
MIRT968026	hsa-miR-1246	CLIP-seq
MIRT968027	hsa-miR-1252	CLIP-seq
MIRT968028	hsa-miR-1273e	CLIP-seq
MIRT968029	hsa-miR-1290	CLIP-seq
MIRT968030	hsa-miR-1293	CLIP-seq
MIRT968031	hsa-miR-1299	CLIP-seq
MIRT968032	hsa-miR-1303	CLIP-seq
MIRT968033	hsa-miR-1305	CLIP-seq
MIRT968034	hsa-miR-137	CLIP-seq
MIRT968035	hsa-miR-2278	CLIP-seq
MIRT968036	hsa-miR-299-3p	CLIP-seq
MIRT968037	hsa-miR-3065-5p	CLIP-seq
MIRT968038	hsa-miR-3074-5p	CLIP-seq
MIRT968039	hsa-miR-3124-3p	CLIP-seq
MIRT968040	hsa-miR-3129-3p	CLIP-seq
MIRT968041	hsa-miR-3134	CLIP-seq
MIRT968042	hsa-miR-3138	CLIP-seq
MIRT968043	hsa-miR-3143	CLIP-seq
MIRT968044	hsa-miR-3158-5p	CLIP-seq
MIRT968045	hsa-miR-3167	CLIP-seq
MIRT968046	hsa-miR-3202	CLIP-seq
MIRT968047	hsa-miR-326	CLIP-seq
MIRT968048	hsa-miR-329	CLIP-seq
MIRT968049	hsa-miR-330-3p	CLIP-seq
MIRT968050	hsa-miR-330-5p	CLIP-seq
MIRT968051	hsa-miR-335	CLIP-seq
MIRT968052	hsa-miR-3529	CLIP-seq
MIRT968053	hsa-miR-3613-3p	CLIP-seq
MIRT968054	hsa-miR-362-3p	CLIP-seq
MIRT968055	hsa-miR-3653	CLIP-seq
MIRT968056	hsa-miR-3658	CLIP-seq
MIRT968057	hsa-miR-3685	CLIP-seq
MIRT968058	hsa-miR-3714	CLIP-seq
MIRT968059	hsa-miR-371-5p	CLIP-seq
MIRT968060	hsa-miR-379	CLIP-seq
MIRT968061	hsa-miR-3909	CLIP-seq
MIRT968062	hsa-miR-3914	CLIP-seq
MIRT968063	hsa-miR-3924	CLIP-seq
MIRT968064	hsa-miR-3941	CLIP-seq
MIRT968065	hsa-miR-4275	CLIP-seq
MIRT968066	hsa-miR-4277	CLIP-seq
MIRT968067	hsa-miR-4422	CLIP-seq
MIRT968068	hsa-miR-4436a	CLIP-seq
MIRT968069	hsa-miR-4446-5p	CLIP-seq
MIRT968070	hsa-miR-4451	CLIP-seq
MIRT968071	hsa-miR-4455	CLIP-seq
MIRT968072	hsa-miR-4464	CLIP-seq
MIRT968073	hsa-miR-4476	CLIP-seq
MIRT968074	hsa-miR-4483	CLIP-seq
MIRT968075	hsa-miR-4491	CLIP-seq
MIRT968076	hsa-miR-4501	CLIP-seq
MIRT968077	hsa-miR-4519	CLIP-seq
MIRT968078	hsa-miR-4528	CLIP-seq
MIRT968079	hsa-miR-4533	CLIP-seq
MIRT968080	hsa-miR-4536	CLIP-seq
MIRT968081	hsa-miR-4650-3p	CLIP-seq
MIRT968082	hsa-miR-4657	CLIP-seq
MIRT968083	hsa-miR-4661-3p	CLIP-seq
MIRT968084	hsa-miR-4668-3p	CLIP-seq
MIRT968085	hsa-miR-4698	CLIP-seq
MIRT968086	hsa-miR-4699-3p	CLIP-seq
MIRT968087	hsa-miR-4700-3p	CLIP-seq
MIRT968088	hsa-miR-4716-5p	CLIP-seq
MIRT968089	hsa-miR-4729	CLIP-seq
MIRT968090	hsa-miR-4738-3p	CLIP-seq
MIRT968091	hsa-miR-4742-3p	CLIP-seq
MIRT968092	hsa-miR-4748	CLIP-seq
MIRT968093	hsa-miR-4753-3p	CLIP-seq
MIRT968094	hsa-miR-4755-5p	CLIP-seq
MIRT968095	hsa-miR-4768-5p	CLIP-seq
MIRT968096	hsa-miR-4787-5p	CLIP-seq
MIRT968097	hsa-miR-4800-5p	CLIP-seq
MIRT968098	hsa-miR-498	CLIP-seq
MIRT968099	hsa-miR-501-3p	CLIP-seq
MIRT968100	hsa-miR-502-3p	CLIP-seq
MIRT968101	hsa-miR-505	CLIP-seq
MIRT968102	hsa-miR-513a-5p	CLIP-seq
MIRT968103	hsa-miR-548an	CLIP-seq
MIRT968104	hsa-miR-583	CLIP-seq
MIRT968105	hsa-miR-592	CLIP-seq
MIRT968106	hsa-miR-597	CLIP-seq
MIRT968107	hsa-miR-599	CLIP-seq
MIRT968108	hsa-miR-603	CLIP-seq
MIRT968109	hsa-miR-607	CLIP-seq
MIRT968110	hsa-miR-609	CLIP-seq
MIRT968111	hsa-miR-622	CLIP-seq
MIRT968112	hsa-miR-642a	CLIP-seq
MIRT968113	hsa-miR-875-3p	CLIP-seq
MIRT968114	hsa-miR-876-5p	CLIP-seq
MIRT968115	hsa-miR-888	CLIP-seq
MIRT968116	hsa-miR-1245b-5p	CLIP-seq
MIRT968027	hsa-miR-1252	CLIP-seq
MIRT968117	hsa-miR-1256	CLIP-seq
MIRT968118	hsa-miR-1271	CLIP-seq
MIRT968028	hsa-miR-1273e	CLIP-seq
MIRT968119	hsa-miR-1275	CLIP-seq
MIRT968120	hsa-miR-1279	CLIP-seq
MIRT968029	hsa-miR-1290	CLIP-seq
MIRT968030	hsa-miR-1293	CLIP-seq
MIRT968031	hsa-miR-1299	CLIP-seq
MIRT968032	hsa-miR-1303	CLIP-seq
MIRT968121	hsa-miR-130a	CLIP-seq
MIRT968122	hsa-miR-130b	CLIP-seq
MIRT968034	hsa-miR-137	CLIP-seq
MIRT968123	hsa-miR-138	CLIP-seq
MIRT968124	hsa-miR-144	CLIP-seq
MIRT968125	hsa-miR-182	CLIP-seq
MIRT968126	hsa-miR-1911	CLIP-seq
MIRT968127	hsa-miR-1913	CLIP-seq
MIRT968128	hsa-miR-19a	CLIP-seq
MIRT968129	hsa-miR-19b	CLIP-seq
MIRT968130	hsa-miR-2054	CLIP-seq
MIRT968131	hsa-miR-2115	CLIP-seq
MIRT968036	hsa-miR-299-3p	CLIP-seq
MIRT968132	hsa-miR-301a	CLIP-seq
MIRT968133	hsa-miR-301b	CLIP-seq
MIRT968134	hsa-miR-302a	CLIP-seq
MIRT968135	hsa-miR-302b	CLIP-seq
MIRT968136	hsa-miR-302c	CLIP-seq
MIRT968137	hsa-miR-302d	CLIP-seq
MIRT968138	hsa-miR-302e	CLIP-seq
MIRT968037	hsa-miR-3065-5p	CLIP-seq
MIRT968139	hsa-miR-30a	CLIP-seq
MIRT968140	hsa-miR-30b	CLIP-seq
MIRT968141	hsa-miR-30c	CLIP-seq
MIRT968142	hsa-miR-30d	CLIP-seq
MIRT968143	hsa-miR-30e	CLIP-seq
MIRT968040	hsa-miR-3129-3p	CLIP-seq
MIRT968042	hsa-miR-3138	CLIP-seq
MIRT968144	hsa-miR-3142	CLIP-seq
MIRT968043	hsa-miR-3143	CLIP-seq
MIRT968145	hsa-miR-3156-5p	CLIP-seq
MIRT968146	hsa-miR-3158-3p	CLIP-seq
MIRT968045	hsa-miR-3167	CLIP-seq
MIRT968147	hsa-miR-3171	CLIP-seq
MIRT968148	hsa-miR-3174	CLIP-seq
MIRT968046	hsa-miR-3202	CLIP-seq
MIRT968149	hsa-miR-324-3p	CLIP-seq
MIRT968047	hsa-miR-326	CLIP-seq
MIRT968050	hsa-miR-330-5p	CLIP-seq
MIRT968052	hsa-miR-3529	CLIP-seq
MIRT968150	hsa-miR-3666	CLIP-seq
MIRT968151	hsa-miR-3692	CLIP-seq
MIRT968152	hsa-miR-372	CLIP-seq
MIRT968153	hsa-miR-373	CLIP-seq
MIRT968060	hsa-miR-379	CLIP-seq
MIRT968154	hsa-miR-3907	CLIP-seq
MIRT968155	hsa-miR-3977	CLIP-seq
MIRT968156	hsa-miR-4295	CLIP-seq
MIRT968070	hsa-miR-4451	CLIP-seq
MIRT968157	hsa-miR-4457	CLIP-seq
MIRT968074	hsa-miR-4483	CLIP-seq
MIRT968075	hsa-miR-4491	CLIP-seq
MIRT968158	hsa-miR-4495	CLIP-seq
MIRT968076	hsa-miR-4501	CLIP-seq
MIRT968159	hsa-miR-4525	CLIP-seq
MIRT968079	hsa-miR-4533	CLIP-seq
MIRT968080	hsa-miR-4536	CLIP-seq
MIRT968160	hsa-miR-454	CLIP-seq
MIRT968161	hsa-miR-4633-5p	CLIP-seq
MIRT968162	hsa-miR-4642	CLIP-seq
MIRT968081	hsa-miR-4650-3p	CLIP-seq
MIRT968082	hsa-miR-4657	CLIP-seq
MIRT968083	hsa-miR-4661-3p	CLIP-seq
MIRT968163	hsa-miR-4665-5p	CLIP-seq
MIRT968164	hsa-miR-4694-3p	CLIP-seq
MIRT968165	hsa-miR-4719	CLIP-seq
MIRT968166	hsa-miR-4720-3p	CLIP-seq
MIRT968167	hsa-miR-4721	CLIP-seq
MIRT968168	hsa-miR-4723-5p	CLIP-seq
MIRT968089	hsa-miR-4729	CLIP-seq
MIRT968090	hsa-miR-4738-3p	CLIP-seq
MIRT968169	hsa-miR-4761-5p	CLIP-seq
MIRT968095	hsa-miR-4768-5p	CLIP-seq
MIRT968170	hsa-miR-4778-3p	CLIP-seq
MIRT968097	hsa-miR-4800-5p	CLIP-seq
MIRT968171	hsa-miR-495	CLIP-seq
MIRT968098	hsa-miR-498	CLIP-seq
MIRT968172	hsa-miR-513a-3p	CLIP-seq
MIRT968102	hsa-miR-513a-5p	CLIP-seq
MIRT968173	hsa-miR-513b	CLIP-seq
MIRT968174	hsa-miR-516a-3p	CLIP-seq
MIRT968175	hsa-miR-519a	CLIP-seq
MIRT968176	hsa-miR-519b-3p	CLIP-seq
MIRT968177	hsa-miR-519c-3p	CLIP-seq
MIRT968178	hsa-miR-520a-3p	CLIP-seq
MIRT968179	hsa-miR-520b	CLIP-seq
MIRT968180	hsa-miR-520c-3p	CLIP-seq
MIRT968181	hsa-miR-520d-3p	CLIP-seq
MIRT968182	hsa-miR-520e	CLIP-seq
MIRT968183	hsa-miR-522	CLIP-seq
MIRT968184	hsa-miR-532-5p	CLIP-seq
MIRT968185	hsa-miR-578	CLIP-seq
MIRT968186	hsa-miR-579	CLIP-seq
MIRT968187	hsa-miR-587	CLIP-seq
MIRT968188	hsa-miR-590-3p	CLIP-seq
MIRT968189	hsa-miR-625	CLIP-seq
MIRT968190	hsa-miR-637	CLIP-seq
MIRT968191	hsa-miR-643	CLIP-seq
MIRT968192	hsa-miR-661	CLIP-seq
MIRT968113	hsa-miR-875-3p	CLIP-seq
MIRT968114	hsa-miR-876-5p	CLIP-seq
MIRT968193	hsa-miR-9	CLIP-seq
MIRT968194	hsa-miR-96	CLIP-seq
MIRT968040	hsa-miR-3129-3p	CLIP-seq
MIRT968043	hsa-miR-3143	CLIP-seq
MIRT968089	hsa-miR-4729	CLIP-seq
MIRT1986813	hsa-miR-101	CLIP-seq
MIRT1986814	hsa-miR-1243	CLIP-seq
MIRT1986815	hsa-miR-1251	CLIP-seq
MIRT1986816	hsa-miR-1253	CLIP-seq
MIRT1986817	hsa-miR-1273g	CLIP-seq
MIRT968124	hsa-miR-144	CLIP-seq
MIRT1986818	hsa-miR-146a	CLIP-seq
MIRT1986819	hsa-miR-1976	CLIP-seq
MIRT1986820	hsa-miR-205	CLIP-seq
MIRT1986821	hsa-miR-221	CLIP-seq
MIRT1986822	hsa-miR-222	CLIP-seq
MIRT1986823	hsa-miR-23a	CLIP-seq
MIRT1986824	hsa-miR-23b	CLIP-seq
MIRT1986825	hsa-miR-23c	CLIP-seq
MIRT1986826	hsa-miR-2467-3p	CLIP-seq
MIRT1986827	hsa-miR-302f	CLIP-seq
MIRT968038	hsa-miR-3074-5p	CLIP-seq
MIRT1986828	hsa-miR-3140-5p	CLIP-seq
MIRT968043	hsa-miR-3143	CLIP-seq
MIRT1986829	hsa-miR-3145-3p	CLIP-seq
MIRT1986830	hsa-miR-3153	CLIP-seq
MIRT1986831	hsa-miR-3654	CLIP-seq
MIRT1986832	hsa-miR-3662	CLIP-seq
MIRT1986833	hsa-miR-3678-3p	CLIP-seq
MIRT968059	hsa-miR-371-5p	CLIP-seq
MIRT1986834	hsa-miR-371b-5p	CLIP-seq
MIRT1986835	hsa-miR-377	CLIP-seq
MIRT1986836	hsa-miR-3919	CLIP-seq
MIRT1986837	hsa-miR-4279	CLIP-seq
MIRT1986838	hsa-miR-4282	CLIP-seq
MIRT1986839	hsa-miR-4287	CLIP-seq
MIRT1986840	hsa-miR-4289	CLIP-seq
MIRT1986841	hsa-miR-432	CLIP-seq
MIRT1986842	hsa-miR-433	CLIP-seq
MIRT1986843	hsa-miR-4453	CLIP-seq
MIRT968157	hsa-miR-4457	CLIP-seq
MIRT1986844	hsa-miR-4469	CLIP-seq
MIRT1986845	hsa-miR-4531	CLIP-seq
MIRT1986846	hsa-miR-4538	CLIP-seq
MIRT1986847	hsa-miR-4684-5p	CLIP-seq
MIRT1986848	hsa-miR-4685-3p	CLIP-seq
MIRT968085	hsa-miR-4698	CLIP-seq
MIRT968086	hsa-miR-4699-3p	CLIP-seq
MIRT1986849	hsa-miR-4703-3p	CLIP-seq
MIRT968166	hsa-miR-4720-3p	CLIP-seq
MIRT1986850	hsa-miR-4724-3p	CLIP-seq
MIRT968089	hsa-miR-4729	CLIP-seq
MIRT1986851	hsa-miR-511	CLIP-seq
MIRT1986852	hsa-miR-513c	CLIP-seq
MIRT1986853	hsa-miR-514b-5p	CLIP-seq
MIRT1986854	hsa-miR-548p	CLIP-seq
MIRT1986855	hsa-miR-548v	CLIP-seq
MIRT968112	hsa-miR-642a	CLIP-seq
MIRT1986813	hsa-miR-101	CLIP-seq
MIRT968026	hsa-miR-1246	CLIP-seq
MIRT968027	hsa-miR-1252	CLIP-seq
MIRT2221360	hsa-miR-1255a	CLIP-seq
MIRT2221361	hsa-miR-1255b	CLIP-seq
MIRT968029	hsa-miR-1290	CLIP-seq
MIRT968032	hsa-miR-1303	CLIP-seq
MIRT968121	hsa-miR-130a	CLIP-seq
MIRT968122	hsa-miR-130b	CLIP-seq
MIRT2221362	hsa-miR-1323	CLIP-seq
MIRT968124	hsa-miR-144	CLIP-seq
MIRT968127	hsa-miR-1913	CLIP-seq
MIRT2221363	hsa-miR-193b	CLIP-seq
MIRT968128	hsa-miR-19a	CLIP-seq
MIRT968129	hsa-miR-19b	CLIP-seq
MIRT968132	hsa-miR-301a	CLIP-seq
MIRT968133	hsa-miR-301b	CLIP-seq
MIRT968134	hsa-miR-302a	CLIP-seq
MIRT968135	hsa-miR-302b	CLIP-seq
MIRT968136	hsa-miR-302c	CLIP-seq
MIRT968137	hsa-miR-302d	CLIP-seq
MIRT968138	hsa-miR-302e	CLIP-seq
MIRT2221364	hsa-miR-3125	CLIP-seq
MIRT2221365	hsa-miR-3132	CLIP-seq
MIRT1986830	hsa-miR-3153	CLIP-seq
MIRT2221366	hsa-miR-3154	CLIP-seq
MIRT968045	hsa-miR-3167	CLIP-seq
MIRT2221367	hsa-miR-3170	CLIP-seq
MIRT2221368	hsa-miR-3176	CLIP-seq
MIRT2221369	hsa-miR-3180-5p	CLIP-seq
MIRT2221370	hsa-miR-3189-3p	CLIP-seq
MIRT2221371	hsa-miR-3200-5p	CLIP-seq
MIRT968149	hsa-miR-324-3p	CLIP-seq
MIRT968052	hsa-miR-3529	CLIP-seq
MIRT2221372	hsa-miR-3659	CLIP-seq
MIRT1986832	hsa-miR-3662	CLIP-seq
MIRT968150	hsa-miR-3666	CLIP-seq
MIRT968057	hsa-miR-3685	CLIP-seq
MIRT968059	hsa-miR-371-5p	CLIP-seq
MIRT1986834	hsa-miR-371b-5p	CLIP-seq
MIRT968152	hsa-miR-372	CLIP-seq
MIRT968153	hsa-miR-373	CLIP-seq
MIRT1986835	hsa-miR-377	CLIP-seq
MIRT968060	hsa-miR-379	CLIP-seq
MIRT2221373	hsa-miR-384	CLIP-seq
MIRT2221374	hsa-miR-3916	CLIP-seq
MIRT2221375	hsa-miR-3922-3p	CLIP-seq
MIRT2221376	hsa-miR-4255	CLIP-seq
MIRT1986838	hsa-miR-4282	CLIP-seq
MIRT968156	hsa-miR-4295	CLIP-seq
MIRT2221377	hsa-miR-4302	CLIP-seq
MIRT968158	hsa-miR-4495	CLIP-seq
MIRT968079	hsa-miR-4533	CLIP-seq
MIRT968160	hsa-miR-454	CLIP-seq
MIRT2221378	hsa-miR-4640-5p	CLIP-seq
MIRT2221379	hsa-miR-4646-5p	CLIP-seq
MIRT968081	hsa-miR-4650-3p	CLIP-seq
MIRT2221380	hsa-miR-4652-3p	CLIP-seq
MIRT2221381	hsa-miR-4658	CLIP-seq
MIRT2221382	hsa-miR-4682	CLIP-seq
MIRT968085	hsa-miR-4698	CLIP-seq
MIRT968086	hsa-miR-4699-3p	CLIP-seq
MIRT2221383	hsa-miR-4699-5p	CLIP-seq
MIRT968166	hsa-miR-4720-3p	CLIP-seq
MIRT1986850	hsa-miR-4724-3p	CLIP-seq
MIRT2221384	hsa-miR-4726-5p	CLIP-seq
MIRT968089	hsa-miR-4729	CLIP-seq
MIRT968091	hsa-miR-4742-3p	CLIP-seq
MIRT2221385	hsa-miR-4747-5p	CLIP-seq
MIRT2221386	hsa-miR-4762-3p	CLIP-seq
MIRT2221387	hsa-miR-4766-5p	CLIP-seq
MIRT2221388	hsa-miR-496	CLIP-seq
MIRT968172	hsa-miR-513a-3p	CLIP-seq
MIRT968175	hsa-miR-519a	CLIP-seq
MIRT968176	hsa-miR-519b-3p	CLIP-seq
MIRT968177	hsa-miR-519c-3p	CLIP-seq
MIRT968178	hsa-miR-520a-3p	CLIP-seq
MIRT2221389	hsa-miR-520a-5p	CLIP-seq
MIRT968179	hsa-miR-520b	CLIP-seq
MIRT968180	hsa-miR-520c-3p	CLIP-seq
MIRT968181	hsa-miR-520d-3p	CLIP-seq
MIRT968182	hsa-miR-520e	CLIP-seq
MIRT2221390	hsa-miR-525-5p	CLIP-seq
MIRT2221391	hsa-miR-548l	CLIP-seq
MIRT2221392	hsa-miR-548o	CLIP-seq
MIRT1986854	hsa-miR-548p	CLIP-seq
MIRT2221393	hsa-miR-574-5p	CLIP-seq
MIRT968186	hsa-miR-579	CLIP-seq
MIRT2221394	hsa-miR-606	CLIP-seq
MIRT2221395	hsa-miR-646	CLIP-seq
MIRT968114	hsa-miR-876-5p	CLIP-seq
MIRT2221396	hsa-miR-892b	CLIP-seq
MIRT2221397	hsa-miR-936	CLIP-seq
MIRT968040	hsa-miR-3129-3p	CLIP-seq
MIRT968043	hsa-miR-3143	CLIP-seq
MIRT968053	hsa-miR-3613-3p	CLIP-seq
MIRT968058	hsa-miR-3714	CLIP-seq
MIRT1986838	hsa-miR-4282	CLIP-seq
MIRT968088	hsa-miR-4716-5p	CLIP-seq
MIRT2448916	hsa-miR-4731-3p	CLIP-seq
MIRT2448917	hsa-miR-4801	CLIP-seq
MIRT968103	hsa-miR-548an	CLIP-seq
MIRT968187	hsa-miR-587	CLIP-seq
MIRT968109	hsa-miR-607	CLIP-seq
MIRT968088	hsa-miR-4716-5p	CLIP-seq
MIRT2448916	hsa-miR-4731-3p	CLIP-seq
MIRT2448917	hsa-miR-4801	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
WWP1	Repression	19561640

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	15534001
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001755	Process	Neural crest cell migration	ISS
GO:0001934	Process	Positive regulation of protein phosphorylation	TAS	15534001
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	18334220
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	18334220
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS	8383326
GO:0005006	Function	Epidermal growth factor receptor activity	IEA
GO:0005154	Function	Epidermal growth factor receptor binding	IBA
GO:0005154	Function	Epidermal growth factor receptor binding	IPI	8617750
GO:0005515	Function	Protein binding	IPI	9135143, 9419975, 10572067, 10725395, 11867753, 15282549, 15345710, 16273093, 16767099, 17360433, 18334649, 19561640, 20227043, 20858735, 21203579, 22939624, 24557338, 25283809, 28988771, 30083275, 35384245, 35512704, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	15534001
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	IDA	16778220
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9275162, 12466964
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	IDA	10572067
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IDA	10353604, 18334220
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IBA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	ISS
GO:0007416	Process	Synapse assembly	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007595	Process	Lactation	IEA
GO:0007595	Process	Lactation	IMP	15534001
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	8617750, 9135143
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	17120616
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0009880	Process	Embryonic pattern specification	ISS
GO:0009891	Process	Positive regulation of biosynthetic process	IEA
GO:0009925	Component	Basal plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	12646923
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016477	Process	Cell migration	IDA	9135143
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	18334220
GO:0021551	Process	Central nervous system morphogenesis	IEA
GO:0021551	Process	Central nervous system morphogenesis	ISS
GO:0021889	Process	Olfactory bulb interneuron differentiation	IEA
GO:0021889	Process	Olfactory bulb interneuron differentiation	ISS
GO:0030182	Process	Neuron differentiation	IBA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030334	Process	Regulation of cell migration	ISS
GO:0030879	Process	Mammary gland development	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0038130	Process	ERBB4 signaling pathway	IDA	9275162, 12466964
GO:0038130	Process	ERBB4 signaling pathway	IEA
GO:0038131	Function	Neuregulin receptor activity	IDA	9275162, 12466964
GO:0038131	Function	Neuregulin receptor activity	IEA
GO:0038135	Process	ERBB2-ERBB4 signaling pathway	IEA
GO:0038138	Process	ERBB4-ERBB4 signaling pathway	IDA	9275162, 12466964
GO:0038138	Process	ERBB4-ERBB4 signaling pathway	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IMP	16837552
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	18334220
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	10722704
GO:0043226	Component	Organelle	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043235	Component	Receptor complex	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	IMP	16778220
GO:0045165	Process	Cell fate commitment	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	15534001
GO:0045937	Process	Positive regulation of phosphate metabolic process	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IMP	15534001
GO:0046777	Process	Protein autophosphorylation	IDA	18334220
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IBA
GO:0050811	Function	GABA receptor binding	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060644	Process	Mammary gland epithelial cell differentiation	IEA
GO:0060644	Process	Mammary gland epithelial cell differentiation	ISS
GO:0060749	Process	Mammary gland alveolus development	IEA
GO:0060749	Process	Mammary gland alveolus development	ISS
GO:0061026	Process	Cardiac muscle tissue regeneration	IEA
GO:0061026	Process	Cardiac muscle tissue regeneration	ISS
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	10348342
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IEA
GO:0072046	Process	Establishment of planar polarity involved in nephron morphogenesis	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:2000010	Process	Positive regulation of protein localization to cell surface	IEA
GO:2001223	Process	Negative regulation of neuron migration	IEA

Other IDs

• MIM: 600543
• HGNC: 3432
• e!Ensembl: ENSG00000178568

Protein

• UniProt ID: Q15303
• Protein name: Receptor tyrosine-protein kinase erbB-4 (EC 2.7.10.1) (Proto-oncogene-like protein c-ErbB-4) (Tyrosine kinase-type cell surface receptor HER4) (p180erbB4) [Cleaved into: ERBB4 intracellular domain (4ICD) (E4ICD) (s80HER4)]
• Protein function: Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation
• PDB: 2AHX, 2L2T, 2LCX, 2R4B, 3BBT, 3BBW, 3BCE, 3U2P, 3U7U, 3U9U, 8U4I, 8U4J, 8U4K, 8U4L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01030	Recep_L_domain	55 → 167	Receptor L domain	Repeat
  PF00757	Furin-like	176 → 335	Furin-like cysteine rich region	Domain
  PF01030	Recep_L_domain	358 → 478	Receptor L domain	Repeat
  PF14843	GF_recep_IV	502 → 634	Growth factor receptor domain IV	Domain
  PF07714	PK_Tyr_Ser-Thr	718 → 974	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at highest levels in brain, heart, kidney, in addition to skeletal muscle, parathyroid, cerebellum, pituitary, spleen, testis and breast. Lower levels in thymus, lung, salivary gland, and pancreas. Isoform JM-A CYT-1 and isof
• Sequence:

  MKPATGLWVWVSLLVAAGTVQPSDSQSVCAGTENKLSSLSDLEQQYRALRKYYENCEVVM
  GNLEITSIEHNRDLSFLRSVREVTGYVLVALNQFRYLPLENLRIIRGTKLYEDRYALAIF
  LNYRKDGNFGLQELGLKNLTEILNGGVYVDQNKFLCYADTIHWQDIVRNPWPSNLTLVST
  NGSSGCGRCHKSCTGRCWGPTENHCQTLTRTVCAEQCDGRCYGPYVSDCCHRECAGGCSG
  PKDTDCFACMNFNDSGACVTQCPQTFVYNPTTFQLEHNFNAKYTYGAFCVKKCPHNFVVD
  SSSCVRACPSSKMEVEENGIKMCKPCTDICPKACDGIGTGSLMSAQTVDSSNIDKFINCT
  KINGNLIFLVTGIHGDPYNAIEAIDPEKLNVFRTVREITGFLNIQSWPPNMTDFSVFSNL
  VTIGGRVLYSGLSLLILKQQGITSLQFQSLKEISAGNIYITDNSNLCYYHTINWTTLFST
  INQRIVIRDNRKAENCTAEGMVCNHLCSSDGCWGPGPDQCLSCRRFSRGRICIESCNLYD
  GEFREFENGSICVECDPQCEKMEDGLLTCHGPGPDNCTKCSHFKDGPNCVEKCPDGLQGA
  NSFIFKYADPDRECHPCHPNCTQGCNGPTSHDCIYYPWTGHSTLPQHARTPLIAAGVIGG
  LFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKR
  VKVLGSGAFGTVYKGIWVPEGETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHL
  VRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGMMYLEERRLV
  HRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQ
  SDVWSYGVTIWELMTFGGKPYDGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMID
  ADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEEDLEDMMDAE
  EYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVP
  YRAPTSTIPEAPVAQGATAEIFDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERS
  PRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNASNGPPKAED
  EYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQ
  EYSTKYFYKQNGRIRPIVAENPEYLSEFSLKPGTVLPPPPYRHRNTVV

• Sequence length: 1308

Pathways

KEGG:

MAPK signaling pathway
ErbB signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Amyotrophic lateral sclerosis
Proteoglycans in cancer

Reactome:

Signaling by ERBB2
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PI3K events in ERBB4 signaling
SHC1 events in ERBB4 signaling
Nuclear signaling by ERBB4
Downregulation of ERBB4 signaling
PIP3 activates AKT signaling
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Downregulation of ERBB2 signaling
Estrogen-dependent gene expression
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 TMD/JMD mutants

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Amyotrophic lateral sclerosis	Likely pathogenic	rs371332509	RCV001260557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 19	Pathogenic	rs397514262	RCV000074382	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NK-cell enteropathy	Likely pathogenic	rs1575051224	RCV000791313	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 19	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis type 10	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN LIPOMATOUS NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN SOFT TISSUE NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON COLD	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISEASE OF PERITONEUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERBB4-associated epilepsy syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERBB4-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERBB4-related Non-syndromic intellectual disability or epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GALLBLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE IMPAIRMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY TRACT INFECTIOUS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal involuntary movement	Abnormal Involuntary Movement	BEFREE	28394697		★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	18199957		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	18854870, 27993643, 28724608		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31456099		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	22584572		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17681096		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26050618, 26824984		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26527747		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25078331	Associate	★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	31291965		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	17308352, 19017278		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	26011570	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22486522	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	37533101	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22486522		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	23278525		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24119685, 30594809, 31124187		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24119685		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	24119685	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	24119685	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 19	Amyotrophic Lateral Sclerosis	UNIPROT_DG	24119685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 19	Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	24119685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 19	Amyotrophic Lateral Sclerosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 19	Amyotrophic Lateral Sclerosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	27052956		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	29388081		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23999525		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23999525		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	21290564		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	21290564	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24152222, 29973587	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	24824216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	19017278	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30246788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	22952857	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22952857		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17483467, 21232925, 21637803, 21993442, 24633675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	21232925, 21637803, 25744101, 30120408	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	21637803, 21993442, 25744101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16685269, 23333248, 24467768		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	16685269		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	25744101, 30179154		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	26093380		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15148612, 19017278		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19017278, 23224376	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10735500, 11748637, 12184370, 15735025, 16187281, 16251361, 16428439, 16606438, 16912174, 16914727, 17120616, 17903305, 17909041, 18182100, 18454307, 18473151, 18985033, 19481955, 19624808, 19808643, 20550710, 20603612, 21396094, 21769435, 22452962, 22584572, 23100016, 23695025, 24063248, 24829397, 25003574, 25036186, 25492965, 25516216, 25680412, 26780728, 27035115, 27736797, 28508829, 28797930, 28810691, 29127433, 30087366, 30336339, 30746756, 31139328, 7568210, 8764133, 9563896, 9652748, 9780009, 9788438, 9858771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	22452962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	11390655, 15084248, 15735025, 16251361, 16417655, 16428439, 16606438, 16778220, 17201160, 17299391, 17465220, 17505063, 17661082, 17903305, 18182100, 18985033, 19624808, 19808643, 20603612, 21092257, 21396094, 22092409, 22452962, 24091566, 24333426, 24829397, 25003574, 25036186, 25492965, 26011570, 27569073, 28027327, 28508829, 28750640, 30087366, 30458882, 34572592, 34971015, 7568210	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	18203811, 20303366, 25744101, 30179154		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21407808, 23492901	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	38237798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12184370, 15476268, 16187281, 31359505, 9494565		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	23917679	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	33928395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	32999426	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22294845	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	23927961	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	30793508	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	28359267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	27611608		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16685269, 23333248, 24467768		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10918604, 15452456, 17681096, 20975381, 25391651, 26048096, 28386192		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	30948450	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21253009, 22554477, 29353061, 29635281	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17465227, 26479420, 36780540	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29125883, 30948450		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	18203811		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	30224945	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	16397033	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23927961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	10094882, 23927961		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	31291965		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	11391800, 17308352, 19017278		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	24256036		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10831347		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	29353061		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23543049		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29102563		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	15360049, 29635281		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21232925, 33603162	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28684271, 30826297		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20585313, 28230865, 30452622		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19690388, 25916654		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	16507107, 34794066	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36442170	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16187281, 18094435, 25335735, 25366420, 25916654, 27323039, 27648936, 29616125		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16507107, 25335735, 25366420, 25416285, 26797410, 28629469, 29945573, 32319604, 34794066, 35213358, 35505597	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	18094435		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18094435		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	24927194		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	23344421		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26844763		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15360049, 21253009, 21969129		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	12869389	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	30452622		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	28077374		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29973587		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	29973587	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	30120408	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29674181, 31195035		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	38149095	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29674181, 31195035		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23369358	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23028342, 23543049, 29944391		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	23028342, 23543049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ductal Carcinoma	Ductal Carcinoma	BEFREE	7992839		★☆☆☆☆ Found in Text Mining only
Early myoclonic encephalopathy	Myoclonic Encephalopathy	BEFREE	18854870, 21967765		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	22854050, 37460683	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16962163, 20664599		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20664599	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	18987482		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	19017278	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	18854870	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22158511		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28273943, 33603162	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30948450		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24916311, 28467773		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24916311, 28467773		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25538945, 28467773, 30115035	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24438167, 30975989	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	17409416, 23681745		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	BEFREE	10844060		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	24927194		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	31608281		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	39735994	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	39735994	Inhibit	★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	27713419	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	22115776	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30594809		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
gallbladder neoplasm	Neoplasm of gallbladder	CTD_human_DG	24997986		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	38092180	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	36264285	Associate	★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	10831347		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20467331	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21439954, 29342193, 30044378		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29342193	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21439954, 29342193, 30044378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	15812817, 16097449, 33892666	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	18854870		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	19629792		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30224945	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26844763		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31960146	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	36264285	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	27910913	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	20603612, 36442170	Inhibit	★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	31608281		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29483666	Associate	★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	26794302		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	33049985	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	32289280	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	31960146	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31195035		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	30098700	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	21290564	Associate	★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	21290564		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35130915	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21232925, 27913953, 28684271, 30590426, 30826297		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	32289280	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23033483		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	21092257		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23633123		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	33603162	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	24927194		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	8732665		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	31960146	Inhibit	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	26463425		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28077374		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	31960146	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	23543049		★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22294845, 28334319, 29391887, 30452622		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28334319		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	35426263	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	23846195		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17681096		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29191600		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31182981	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32319604	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34106605	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21805036		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	21805036		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	21993442		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	21993442		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	21993442		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	21993442		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	21993442		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	21993442		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	21993442		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29628188, 30120408, 30706412		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059, 29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	10735500, 11106235, 14973552, 15735025, 16251361, 16428439, 16606438, 16912174, 16914727, 17120616, 17903305, 17909041, 18182100, 18454307, 18473151, 18985033, 19481955, 19624808, 19808643, 20550710, 20603612, 21396094, 21769435, 22452962, 22584572, 23100016, 23695025, 24063248, 24829397, 25003574, 25036186, 25492965, 25516216, 25680412, 26780728, 27035115, 27736797, 28508829, 28750640, 28797930, 28810691, 29127433, 30087366, 30336339, 30746756, 31139328, 7568210, 8764133, 9563896, 9652748, 9780009, 9788438, 9858771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	22452962		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16962163		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24916311, 28467773		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	CTD_human_DG	24997986		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10918604, 15452456, 16187281, 17681096, 20975381, 25391651, 26048096, 28386192		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22856597, 29125883		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19304440, 20103665		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17903305, 27609473		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	19718025		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22606006, 24728052, 25583476, 27787520, 28501849, 28573357, 29535422, 29620274, 31850207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16685269, 23333248, 24467768		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10022808, 11206334, 15735025, 16187281, 16832345, 17465220, 17903305, 17909041, 18575766, 20404484, 22856597, 23695025, 24829397, 25140053, 25492964, 25916654, 26653553, 27609473, 29179520, 29342193, 29371993, 29398709, 30452622, 31119810, 31400925, 9771476, 9988227		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	31291965		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23927961		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19690388, 25916654		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15084248, 15735025, 16251361, 16606438, 16778220, 16912174, 16914727, 17909041, 18985033		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16832345, 17120616, 20603612, 25140053, 27185877, 27262100, 28508829, 9780009		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11391800, 17308352, 19017278		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	16842254		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19017278	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19718025, 19800573, 20404484, 22856597, 23237222, 24258993, 24366194, 24489649, 24628946, 25654738, 28314930, 29309357		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	19718025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CLINVAR_DG	19718025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19800573, 20404484, 23237222, 24258993, 24628946, 24709886, 28356599, 33378376, 37160315	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	27640074	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	31400925		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29973587		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20600594, 21993442, 22689948, 24870235, 25744101, 28322273, 28675393, 28792672		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28223167		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29944391		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	24258993		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	16778220	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	21637803, 30120408	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	30120408, 30706412		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	31124187		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	21805036		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14576062	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	18545673		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30566395		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31396490		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	27285994		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	27285994	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11106235, 11280782, 11391800, 12374672, 12637154, 12827309, 12866037, 14503808, 15148612, 15360049, 16251361, 16912174, 17661082, 19017278, 19304440, 19447869, 19624808, 19878607, 20467331, 20603612, 20604875, 20664599, 21203803, 22415601, 22426337, 23695025, 24338375, 24455756, 24728052, 25009009, 25036186, 25391651, 25516216, 25916654, 26527747, 27035115, 27282351, 28178720, 28334319, 28386192, 28409272, 29342193, 29353061, 29482002, 29524631, 29551924, 29620274, 30896867, 31139328, 31291965, 31850207, 9494565, 9780009, 9858771		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28421673		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	16462207		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22415601, 24455756, 27611608		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22415601	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28727685		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28042953		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	26479420		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASCAT_DG	31311600		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17442448, 17681096, 22753918, 24469061, 24501009, 25521398, 26050618, 31359792		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	15788662		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	21637803, 22115776		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29944391		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	36411648	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Morbid	Obesity	Pubtator	31852448	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	15735025, 16912174, 21396094, 30458882		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	29353061		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	26949921	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15026342, 24924170, 29524631, 30008917, 31663373		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	15026342		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	16007579	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16832345		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29125883		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24901400, 28178720, 30485824, 33036254	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	28178720		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19304440, 20103665		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12678544		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	21110957		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19304440, 21110957, 27871278	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	21110957	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25922907		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27640074	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	28751665	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	27297792		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	26811494	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	30594809		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	19017278		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	28077374		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	26416764, 28195137		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	26416764, 30566500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	26416764, 28068351, 28195137, 32289280, 35157673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28675393		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	29319907		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	21437657		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17903305, 27609473		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12637154		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16397033, 17922460, 18282083, 23661456, 25472581	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	18854870	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	21637803, 22115776		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	22115776	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15360049		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28724608, 29102563, 29222368		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	29801054	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	17409416, 23681745, 28542597	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12145742, 16249994, 16402353, 17164265, 17460065, 17579610, 17982252, 18243664, 18478032, 18668031, 18704261, 18854870, 18996920, 19046988, 19232479, 19336245, 19439407, 19629792, 20433909, 20600594, 20688137, 20713722, 21232925, 21295966, 21371516, 21513767, 21637803, 21876540, 21907759, 21993442, 22115776, 22253750, 22634065, 22689948, 23301017, 23389757, 23628989, 23752247, 24636039, 25142529, 25349163, 25714000, 25744101, 26337038, 26960157, 27295274, 28225484, 28322273, 28384043, 28646138, 28667174, 28675393, 28727685, 28792672, 29464684, 29628188, 29844389, 30120408, 30312963, 30513516, 30590426, 31388929		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	LHGDN	16767099, 17164265		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	17579610, 18243664, 18854870, 20713722, 21232925, 21637803, 21832192, 21876540, 22115776, 22952857, 23752247, 25744101, 26337038, 30120408, 32690068	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	PSYGENET_DG	23628989, 23752247, 23891727, 25142529		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	25520391		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	30224945	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30224945		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	19718025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	26794302		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15809707, 19691460, 24338375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24438167, 24916311, 29729836, 31119810		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	14595263, 28984303, 31109699	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15476268, 21953075, 27207775, 29603584, 31285959, 9494565		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	19691460, 24530397		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28267150		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16187281, 24728052, 25583476, 27787520, 28501849, 29535422, 29620274, 31850207		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22606006, 25583476, 26811494, 27270314, 33021020, 33900127	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24728052	Inhibit	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28756200, 30087588		★☆☆☆☆ Found in Text Mining only
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	24649974		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	14614020		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25922907	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	23917679	Associate	★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	28273943	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24505496, 26907936	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26907936, 27736797		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	29628188		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15583696, 18006009	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	38285192	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23927961	Associate	★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	21967765		★☆☆☆☆ Found in Text Mining only